Page URL:

Drug to beat serious genetic disorders; cystic fibrosis success

15 September 2008
Appeared in BioNews 475

A new investigational drug, potentially able to treat up to 2400 different genetic disorders, has been shown to induce production of a vital protein missing in patients with cystic fibrosis, the UK's most common life-threatening inherited disease. The drug, known as PTC124, could be used to treat the 5-15% (and in some cases up to 70%) of genetic disorders caused by a class of genetic mutations which interfere with the production of vital proteins in the body, according to scientists at PTC Therapeutics, Inc. who discovered PTC124.

Large-scale trials on patients with the childhood muscle wasting disease 'Duchenne muscular dystrophy' are already underway at 38 sites worldwide, with a similar study in cystic fibrosis patients due to start later this year. This is the first large-scale international cystic fibrosis trial for PTC124 said Dr. Stuart Peltz, cofounder and CEO of PTC Therapeutics, Inc. who are sponsoring the research.

Dr. Peltz told delegates at the BSHG annual conference today: 'Initial studies in animal models and early clinical trials have been very encouraging: In mice with the rodent version of Duchenne muscular dystrophy (DMD) we saw the muscle function normally lost in this disease restored to normal. In our latest trial, the majority of the 23 cystic fibrosis patients treated with PTC124 showed significant improvements, with over half entering the normal range of chloride channel function. The next step will be to investigate the longer-term effects of the drug in larger groups of cystic fibrosis and DMD patients in order to evaluate its potential clinical benefit.'

People with cystic fibrosis (CF) have a mutation in both copies of their 'CFTR' gene (one inherited from each parent), which disrupts a protein controlling salt and water levels in the body. Without the protein, their bodily fluids become abnormally thick and sticky, causing breathing and digestive problems. About 10% of CF patients have a type of mutation - known as a 'nonsense' mutation - which creates a rogue 'stop' signal in their CFTR gene, preventing production of the full-length functional protein.

Peltz said: 'PTC124 works by overriding the cell's protein-translation machinery into ignoring the premature stop signal, thereby allowing complete, functioning proteins to be produced. By targeting the underlying cause of the disease, PTC124 is one of the first drugs to put the concept of personalised medicine into practice.'

'Nonsense' mutations are found in up to 2400 other genetic diseases which may also be treatable with the new drug, taken orally throughout the patient's lifetime. The results of both the CF and DMD trials are expected in late 2010.

Simple powder to beat 2400 genetic diseases goes on sale in two years
The Daily Mail |  15 September 2008
20 June 2011 - by Dr Rebecca Hill 
Scientists have discovered a way to bypass the type of mutation that causes about a third of human genetic diseases. Experiments in yeast have shown how chemical modifications can allow a cell's machinery to ignore mistakes in DNA known as nonsense mutations...
25 October 2009 - by Dr Marianne Kennedy 
A potential new gene therapy for Duchenne Muscular Dystrophy (DMD) is now set to enter clinical trials after encouraging results in mice. The multinational team of scientists, publishing their findings in the journal Molecular Therapy, demonstrated that the therapy dramatically prevented severe muscle deterioration and extended the lifespan of mice with symptoms of DMD....
9 May 2007 - by Celine Lewis 
Last week's BioNews reported on the development of new drug called PTC124, which offers hope to patients with Duchenne muscular dystrophy (DMD), as well as cystic fibrosis (CF) and perhaps a number of other genetic disorders. The drug is currently at the stage of clinical trials after successful trials on...
30 April 2007 - by Heidi Nicholl 
A new drug is being trialled in humans which has been able to cure Duchenne muscular dystrophy (DMD) in mice with symptoms of the disease. The drug, named PTC124, has been developed by scientists working at the University of Massachusetts Medical School and Pennsylvania University Medical School...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.